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Mutations of the thyroid peroxidase gene in Chinese siblings with congenital goitrous hypothyroidism. 2012

Shao-Gang Ma, and Xiao-Juan Wu, and Hong Liu, and Wei Xu, and Le He
Department of Endocrinology and Metabolism, Xuzhou Medical College, Huai'an, China. shaogangma@yahoo.com.cn

OBJECTIVE To investigate thyroid peroxidase gene (TPO) mutations in a Chinese siblings with congenital goitrous hypothyroidism (CGH). METHODS The proband, his sister, and their parents were enrolled. All subjects underwent clinical examination and laboratory tests. Mutation screening of the TPO gene was performed by sequencing fragments amplified from extracted genomic DNA. RESULTS The siblings were diagnosed as CGH with neurodevelopmental deficits. Two compound heterozygous inactivating mutations were found in the two patients: a frameshift mutation between positions 2268 and 2269 (c.2268-2269 insT) and a missense mutation at c.2089 G>A (p.G667S) of the TPO gene. Their parents, with normal thyroid hormone levels, were heterozygous for mutations c.2268-2269 insT and c.2089 G>A, respectively. The polymorphisms of c.1207 G>T, c.1283 G>C, and c.2088 C>T were detected in the family. CONCLUSIONS CGH of the Chinese siblings was due to the TPO gene mutations (c.2268-2269 insT and c.2089 G>A).

UI MeSH Term Description Entries
D007453 Iodide Peroxidase A hemeprotein that catalyzes the oxidation of the iodide radical to iodine with the subsequent iodination of many organic compounds, particularly proteins. EC 1.11.1.8. Iodinase,Iodothyronine 5'-Deiodinase,Iodothyronine Deiodinase,Iodotyrosine Deiodase,Thyroid Peroxidase,Thyroxine 5'-Deiodinase,Thyroxine 5'-Monodeiodinase,5'-Deiodinase,Deiodinase,Iodotyrosine Deiodinase,Monodeiodinase,Reverse Triiodothyronine 5'-Deiodinase,T4-5'-Deiodinase,T4-Monodeiodinase,Tetraiodothyronine 5'-Deiodinase,Thyroxine Converting Enzyme,Triiodothyronine Deiodinase,5' Deiodinase,5'-Deiodinase, Iodothyronine,5'-Deiodinase, Reverse Triiodothyronine,5'-Deiodinase, Tetraiodothyronine,5'-Deiodinase, Thyroxine,5'-Monodeiodinase, Thyroxine,Deiodase, Iodotyrosine,Deiodinase, Iodothyronine,Deiodinase, Iodotyrosine,Deiodinase, Triiodothyronine,Enzyme, Thyroxine Converting,Iodothyronine 5' Deiodinase,Peroxidase, Iodide,Peroxidase, Thyroid,Reverse Triiodothyronine 5' Deiodinase,T4 5' Deiodinase,T4 Monodeiodinase,Tetraiodothyronine 5' Deiodinase,Thyroxine 5' Deiodinase,Thyroxine 5' Monodeiodinase,Triiodothyronine 5'-Deiodinase, Reverse
D008297 Male Males
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D011110 Polymorphism, Genetic The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. Gene Polymorphism,Genetic Polymorphism,Polymorphism (Genetics),Genetic Polymorphisms,Gene Polymorphisms,Polymorphism, Gene,Polymorphisms (Genetics),Polymorphisms, Gene,Polymorphisms, Genetic
D003409 Congenital Hypothyroidism A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA. Cretinism,Myxedema, Congenital,Endemic Cretinism,Fetal Iodine Deficiency Disorder,Cretinism, Endemic,Hypothyroidism, Congenital
D005260 Female Females
D006042 Goiter Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency (HYPOTHYROIDISM), or hormone overproduction (HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic (GOITER, ENDEMIC). Goiters
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D016368 Frameshift Mutation A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously. Mutation, Frameshift,Frame Shift Mutation,Out-of-Frame Deletion,Out-of-Frame Insertion,Out-of-Frame Mutation,Deletion, Out-of-Frame,Deletions, Out-of-Frame,Frame Shift Mutations,Frameshift Mutations,Insertion, Out-of-Frame,Insertions, Out-of-Frame,Mutation, Frame Shift,Mutation, Out-of-Frame,Mutations, Frame Shift,Mutations, Frameshift,Mutations, Out-of-Frame,Out of Frame Deletion,Out of Frame Insertion,Out of Frame Mutation,Out-of-Frame Deletions,Out-of-Frame Insertions,Out-of-Frame Mutations

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